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Klinefelter syndrome - Things to Know

The Klinefelter Syndrome is hard-to-notice due to which many parents are unaware of its existence in their sons till they show delays in puberty and growth.

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The Klinefelter syndrome is not uncommon among boys. This genetic condition is also known as XXY Syndrome and is found in males only. It occurs due to error in cell division when the child's parents' reproductive cells are being created.

Even if one of these 'defective' cells is passed on to the child, he will have a genetic structure of XXY chromosomes instead of XY chromosomes in some or even all of his cells. Since it's a genetic condition, it means that the boys are born with it, but it's not a hereditary condition.

Its symptoms include less facial hair, breast tissue development, decreased pubic hair, delay in the first age of walking and testicles growing at a slow rate, thus producing lower levels of testosterone and sperm. Testosterone is a hormone which determines the physical and sexual development of a boy, thus deterring a normal growth in him. In extreme cases, it becomes impossible for the boy suffering from Klinefelter Syndrome to father children later on in his life.

Apart from physical symptoms, this syndrome can manifest itself into a lack of language and social skills. Such young boys learn to talk very late, or are unable to use words to describe their emotions correctly. They also have trouble grasping the concepts of spelling, reading and writing, not to mention having a tough time paying attention to anything for long periods of time

Two tests can determine whether or not your child has Klinefelter syndrome.

The first is hormone testing, where a small blood sample is required to determine low levels of testosterone. The second is a chromosome analysis, again done with a blood sample, analyzing the number of chromosomes present.

Treatment

The earlier this condition is detected, the better it can be treated. But it must be understood that there exists no medicine which can change the genetic structure from XXY to XY. However, Testosterone Replacement Therapy can help young boys lead normal lives.

As its name indicates, this therapy works by increasing the levels of the hormone testosterone within the child's body till it reaches its normal range. Testosterone above those levels can lend boys a deeper voice, a better physique as well as development of sexual reproductive organs like the penis. However, the size of the testicles remains the same, as well as the fact that an infertile man will always remain so.

Other aspects of treatment like educational support services help young boys to keep up with what's happening in their schools. Extra assistance in schoolwork is a blessing for them. Speech and language therapy can help boys read, write, spell and talk in public, while physical helps them improve their hand-eye co-ordination, muscle strength etc.

Even though a sizeable number of boys suffer from this condition, the majority of these children grow up to be young men who lead normal, independent lives.

Categorized into General Health,Kid Health